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Updated: Mar 3, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
Genetic association studies in cardiovascular diseases: Do we have enough power?
Paul L Auer1, Nathan O Stitziel2
1Zilber School of Public Health, University of Wisconsin-Milwaukee, Milwaukee, WI.
Abstract:
Genetic association studies have a long history of delivering insightful results for cardiovascular disease (CVD) research. Beginning with early candidate gene studies, to genome-wide association studies, and now on to newer whole-genome sequencing studies, research in human genetics has enriched our understanding of the pathobiology of CVD. As these studies continue to expand, the issue of statistical power plays an important role in study design as well as the interpretation of results. We provide an overview of the component parts that determine statistical power and preview the future of CVD genetic association studies through this lens.
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